Journal
HEMOGLOBIN
Volume 38, Issue 4, Pages 272-276Publisher
TAYLOR & FRANCIS LTD
DOI: 10.3109/03630269.2014.912661
Keywords
beta-Thalassemia (beta-thal); HBB; mutation; Syria
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Funding
- Atomic Energy Commission of Syria (AECS)
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beta-Thalassemia (beta-thal) is an autosomal recessive disorder characterized by variable degrees of anemia, bone marrow hyperplasia, splenomegaly, and complications related to the severity of the anemic state. The beta-thalassemias result from mutations in and around the beta-globin gene (HBB) located as a cluster on the short arm of chromosome 11. In Syria, beta-thal is highly prevalent. The main aim of this study was to identify the frequency of HBB mutations in 189 Syrian beta-thal patients and carriers of beta-thal. Out of the 189 patients and carriers recruited in this study, 181 patients had at least one HBB mutation and eight patients did not show any mutation. The 10 most frequent ones constituted 77.5% of all HBB mutations. These mutations in order of frequency were: IVS-I-110 (G>A) (17.0%), IVS-I-1 (G>A) (14.7%), codon 39 (C>T) (14.4%), IVS-II-1 (G>A) (9.8%), codon 8 (-AA) (6.2%), IVS-I-6 (T>C) (5.2%), IVS-I-5 (G>C) (4.9%), codon 5 (-C) (3.2%), IVS-I-5 (G>A) (3.2%) and codon 37 (G>A) (2.2%). Another 21 mutations were less frequent or sporadic. These results provide important tools for adapting a prenatal molecular diagnostic test for the Syrian population.
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